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Updated: Feb 20, 2026

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家族性高コレステロール血症は,PCSK9のタンパク質を切り離す変種によって隠されている

Hayato Tada1, Atsushi Furukawa1, Masayuki Takamura1

  • 1Division of Cardiovascular Medicine, Kanazawa University Graduate School of Medicine, Kanazawa, Japan.

Journal of clinical lipidology
|February 18, 2026
PubMed
まとめ

家族性高コレステロール血症 (FH) は一般的な遺伝疾患です. 稀なFH家族では,天然のPCSK9変異により症状が緩和され,長期にわたるPCSK9抑制がFH患者にとって安全である可能性があることを示唆しています.

キーワード:
家族性高コレステロール血症である.ファミリアル・ヒポベタリポプロテイン血症遺伝学 遺伝学とはLDLコレステロール LDLコレステロールPCSK9 について

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